Variant · Snv
DYSF NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
CI-VAR-00020377Explore in graph →p.Gln1459=NM_001130987.2:c.4377G>AClinVar 128948 rs76576806
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 128948 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Autosomal recessive limb-girdle muscular dystrophy type 2B; Thymoma; Acute myeloid leukemia; Gastric cancer; Thyroid cancer, nonmedullary, 1; Cervical cancer | germline | 9 | Feb 02, 2026 | clinvar |